nsv4658001
- Organism: Homo sapiens
- Study:nstd185 (Puig et al. 2020)
- Variant Type:inversion
- Method Type:ddPCR
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:41,018
- Publication(s):Puig et al. 2020
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 591 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 572 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4658001 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000023.11 | ChrX | 149,681,127 | 149,722,144 | ||
| nsv4658001 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 148,762,795 | 148,803,804 |
| nsv4658001 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,205,525 | 5,246,542 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181397 | inversion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181397 | Submitted genomic | NC_000023.11:g.(?_ 149681127)_(149722 144_?)inv | GRCh38.p13 | NC_000023.11 | ChrX | 149,681,127 | 149,722,144 | ||
| nssv16181397 | Remapped | Perfect | NW_004070890.2:g.( ?_5205525)_(524654 2_?)inv | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,205,525 | 5,246,542 |
| nssv16181397 | Remapped | Good | NC_000023.10:g.(?_ 148762795)_(148803 804_?)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,762,795 | 148,803,804 |